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Increased dosage of DSCR1 and DYRK1A destabilizes NFAT regulation and accounts for Down syndrome phenotypes
Uta Francke, Stanford University, United States
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Overdose of a short HSA21 segment causes reduction of REST transcript levels in humans and mouse Down syndrome models
Prof Dean Nizetic, Barts & The London, Queen Mary College Medical School, United Kingdom
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The fragile X gene FMR1 participates in control of the mammalian circadian clock
David L Nelson, Baylor College of Medicine, United States
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An inducible mouse model of RNA toxicity in myotonic muscular dystrophy
Mani S Mahadevan, University of Virginia, United States
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An ENU screen in the mouse reveals the role of epigenetics in disease phenotypes
Ms Alyson Ashe, University of Sydney, Australia
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Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
Dr Alison J Ross, Institute of Child Health, University College London, United Kingdom
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Characterization of a hypomorphic allele of the FKBP8 gene
Dr Richard H Finnell, The Texas Institute for Genomic Medicine, United States
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A gene for speed: The ACTN3 R577X polymorphism influences muscle performance
Daniel G MacArthur, Institute for Neuromuscular Research, Children's Hospital at Westmead, Sydney, Australia, Australia
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